Human Genetics

  1. Patterns of Inheritance
    1. Pedigree Analysis Methods
      1. Pedigree Symbols
        1. Construction Principles
          1. Inheritance Pattern Recognition
            1. Risk Assessment
              1. Carrier Identification
              2. Mendelian Inheritance Patterns
                1. Autosomal Dominant Inheritance
                  1. Transmission Characteristics
                    1. Penetrance and Expressivity
                      1. Age of Onset Variation
                        1. Clinical Examples
                        2. Autosomal Recessive Inheritance
                          1. Carrier States
                            1. Consanguinity Effects
                              1. Population Frequencies
                                1. Clinical Examples
                                2. X-linked Inheritance
                                  1. X-linked Recessive Pattern
                                    1. X-linked Dominant Pattern
                                      1. Carrier Female Manifestations
                                        1. Male Hemizygosity
                                        2. Y-linked Inheritance
                                          1. Patrilineal Transmission
                                            1. Holandric Traits
                                              1. Y Chromosome Structure
                                            2. Non-Mendelian Inheritance
                                              1. Mitochondrial Inheritance
                                                1. Maternal Transmission
                                                  1. Heteroplasmy
                                                    1. Threshold Effects
                                                      1. Mitochondrial Disorders
                                                      2. Genomic Imprinting
                                                        1. Parent-of-Origin Effects
                                                          1. Imprinting Centers
                                                            1. Uniparental Disomy
                                                              1. Imprinting Disorders
                                                              2. Anticipation Phenomena
                                                                1. Trinucleotide Repeat Expansion
                                                                  1. Dynamic Mutations
                                                                    1. Intergenerational Instability
                                                                      1. Clinical Examples
                                                                      2. Complex Inheritance Patterns
                                                                        1. Incomplete Penetrance
                                                                          1. Variable Expressivity
                                                                            1. Genetic Heterogeneity
                                                                              1. Pleiotropy
                                                                                1. Epistasis

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                                                                            3. Human Chromosomes and Cytogenetics

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                                                                            5. Human Genetic Variation